Search Results - "Zimmermann, Aliz"

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1 by Kalmár, Tibor, Maróti, Zoltán, Zimmermann, Alíz, Sztriha, László

“…The ALDH18A1 gene is located at 10q24.1 and encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), a mitochondrial bifunctional enzyme that catalyzes the…”
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Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability by Zombor, Melinda, Kalmár, Tibor, Maróti, Zoltán, Zimmermann, Alíz, Máté, Adrienn, Bereczki, Csaba, Sztriha, László

“…Heterozygous disruptions in FOXP1 are responsible for developmental delay, intellectual disability and speech deficit. Heterozygous germline PTCH1…”
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A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder by Nagy, Nikoletta, Pál, Margit, Nagy, Dóra, Bokor, Barbara Anna, Zimmermann, Aliz, Gellén, Balázs, Salamon, András, Sztriha, László, Klivényi, Péter, Széll, Márta

“…We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed…”
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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome by Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Darra, Francesca, Máté, Adrienn, Zimmermann, Alíz, Gouider-Khouja, Neziha, Valente, Enza Maria

“…Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth…”
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Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature by Nagy, Dóra, Farkas, Katalin, Armengol, Lluís, Segura, Maria, Esi Zodanu, Gloria Kafui, Csányi, Bernadett, Zimmermann, Alíz, Vámos, Barbara, Széll, Márta

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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia by Kalmár, Tibor, Szakszon, Katalin, Maróti, Zoltán, Zimmermann, Alíz, Máté, Adrienn, Zombor, Melinda, Bereczki, Csaba, Sztriha, László

“…Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum…”
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Spectrum of Neurodevelopmental Disabilities: A Cohort Study in Hungary by Gergev, Gyurgyinka, Máté, Adrienn, Zimmermann, Alíz, Rárosi, Ferenc, Sztriha, László

“…The spectrum of neurodevelopmental disabilities was studied in a cohort of patients in Hungary. A search for etiologies and assessment of the degree of…”
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Cerebroprotective effects of the CO-releasing molecule CORM-A1 against seizure-induced neonatal vascular injury by Zimmermann, Aliz, Leffler, Charles W, Tcheranova, Dilyara, Fedinec, Alexander L, Parfenova, Helena

“…Endogenous CO, a product of heme oxygenase activity, has vasodilator and cytoprotective effects in the cerebral circulation of newborn pigs. CO-releasing…”
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The clinical manifestations of two novel SPAST mutations by Zádori, Dénes, Máté, Adrienn, Róna-Vörös, Krisztina, Gergev, Gyurgyinka, Zimmermann, Alíz, Nagy, Nikoletta, Széll, Márta, Vécsei, László, Sztriha, László, Klivényi, Péter

“…Highlights • The mutations in the SPAST gene have wide spectrum of clinical phenomenology. • We report 2 novel mutations (c.1732A>T p.R578X and c.1334G>C…”
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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III by Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit, Bernard, Geneviève

“…A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are…”
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Hydrogen is neuroprotective and preserves cerebrovascular reactivity in asphyxiated newborn pigs by Domoki, Ferenc, Oláh, Orsolya, Zimmermann, Aliz, Németh, István, Tóth-Szűki, Valéria, Hugyecz, Marietta, Temesvári, Péter, Bari, Ferenc

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Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient by Klivényi, Péter, Szpisjak, László, Salamon, András, Németh, Viola Luca, Szépfalusi, Noémi, Maróti, Zoltán, Kalmár, Tibor, Zimmermann, Aliz, Zádori, Dénes

“…Autosomal dominant cerebellar ataxias (ADCA), also known as spinocerebellar ataxias (SCA) are a group of progressive neurodegenerative diseases with remarkable…”
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Epileptic seizures increase circulating endothelial cells in peripheral blood as early indicators of cerebral vascular damage by Parfenova, Helena, Leffler, Charles W, Tcheranova, Dilyara, Basuroy, Shyamali, Zimmermann, Aliz

“…Circulating endothelial cells (CECs) are nonhematopoetic mononuclear cells in peripheral blood that are dislodged from injured vessels during cardiovascular…”
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Hydrogen is Neuroprotective and Preserves Cerebrovascular Reactivity in Asphyxiated Newborn Pigs by Domoki, Ferenc, Oláh, Orsolya, Zimmermann, Aliz, Németh, István, Tóth-Szűki, Valéria, Hugyecz, Marietta, Temesvári, Péter, Bari, Ferenc

“…Hydrogen (H 2 ) has been reported to neutralize toxic reactive oxygen species. Oxidative stress is an important mechanism of neuronal damage after perinatal…”
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Seizure-induced alterations in cerebrovascular function in the neonate by Zimmermann, Aliz, Domoki, Ferenc, Bari, Ferenc

“…Epileptiform seizures are most common during the neonatal period, affecting at least 0.3% of term neonates and more than 10% of preterm neonates. The adverse…”
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Increase in circulating endothelial cells correlates with vascular dysfunction caused by epileptic seizures by Zimmermann, Aliz, Leffler, Charles W., Parfenova, Helena

“…Circulating endothelial cells (CEC) are non‐hematopoetic mononuclear cells in the peripheral blood that are dislodged from vessel walls. The number of CEC has…”
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PACAP and VIP differentially preserve neurovascular reactivity after global cerebral ischemia in newborn pigs by Lenti, Laura, Zimmermann, Aliz, Kis, Dávid, Oláh, Orsolya, Tóth, Gábor K, Hegyi, Orsolya, Busija, David W, Bari, Ferenc, Domoki, Ferenc

“…Abstract Pituitary adenylate cyclase activating polypeptide (PACAP) and vasoactive intestinal peptide (VIP) are neuroprotective in numerous models. Impairment…”
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Pituitary adenylate cyclase activating polypeptide (PACAP) preserves pial arteriolar dilation to hypercapnia and N‐methyl‐D‐aspartate (NMDA) after global cerebral ischemia in piglets by Lenti, Laura, Domoki, Ferenc, Kis, David, Zimmermann, Aliz, Toth, Gabor, Busija, David W, Bari, Ferenc

“…Abstract only Impairment of cerebrovascular reactivity (CR) contributes to ischemia/reperfusion (I/R)‐induced neuronal damage. PACAP is neuroprotective in…”
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Reventilation with room air or 100% oxygen after asphyxia differentially affects cerebral neuropathology in newborn pigs by Domoki, Ferenc, Zimmermann, Aliz, Cserni, Gabor, Bori, Rita, Temesvári, Peter, Bari, Ferenc

“…Aim: To test if reventilation with room air (RA) or 100% oxygen (O2) after asphyxia would differentially affect neuronal damage in different brain areas of…”
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Acetazolamide induces indomethacin and ischaemia-sensitive pial arteriolar vasodilation in the piglet by Domoki, Ferenc, Zimmermann, Aliz, Tóth-Szki, Valéria, Busija, David W., Bari, Ferenc

“…Aim: Acetazolamide (AZD) produces cerebral vasodilation. The underlying mechanism is unclear, but it is assumed to be largely due to CO2 retention and…”
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